The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1.
POU5F1, which encodes a transcriptional factor, has two alternatively spliced transcripts, 1 and 2, as well as six pseudogenes. Transcript 1 is considered to be a key regulator of cellular pluripotency and self-renewal. The POU5F1 pseudogene, POU5F1P1 on 8q24, encodes a protein with 95% homology with the isoform 1 of POU5F1. It is located 15 kbp downstream of the SNP rs6983267, which is strongly associated with an increased risk of prostate and colon cancer, and within the amplified region in a variety of human malignancies. The previous finding of expressed sequence tags suggests that POU5F1P1 can be expressed. We showed that a putative POU5F1P1 protein is localized in the nucleus, acts as a transcriptional activator and regulates the expression in a similar way to the POU5F1 isoform 1. However, POU5F1P1 was a weaker activator than isoform 1 of POU5F1, possibly due to the amino acid substitutions.
Panagopoulos
Ioannis
I
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. ioannis.panagopoulos@med.lu.se
Möller
Emely
E
Collin
Anna
A
Mertens
Fredrik
F
D000595:Amino Acid Sequence; D005786:Gene Expression Regulation; D006367:HeLa Cells; D006801:Humans; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D050814:Octamer Transcription Factor-3 / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics* / Q000378:metabolism*; D011544:Pseudogenes / Q000235:genetics*; D016415:Sequence Alignment; D014162:Transfection
D050814:Octamer Transcription Factor-3; D020033:Protein Isoforms